Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262241 | SCV001440036 | likely benign | Kabuki syndrome 1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001363670 | SCV001559793 | benign | Kabuki syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003135900 | SCV003812657 | uncertain significance | not provided | 2020-03-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003135900 | SCV004130836 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | KMT2D: BS2 |